Canonical Allele Identifier: CA383038925

Gene: SORL1

Linked Data

• gnomAD v4: 11-121605234-C-A
• MyVariant Identifiers: chr11:g.121475943C>A (hg19) ; chr11:g.121605234C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121605234C>A , CM000673.2:g.121605234C>A	GRCh38
NC_000011.9:g.121475943C>A , CM000673.1:g.121475943C>A	GRCh37
NC_000011.8:g.120981153C>A	NCBI36
NG_023313.1:g.157983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.4773C>A MANE Select	ENSP00000260197.6:p.Tyr1591Ter
ENST00000260197.11:c.4773C>A	ENSP00000260197.6:p.Tyr1591Ter
ENST00000525532.5:c.1605C>A	ENSP00000434634.1:p.Tyr535Ter
ENST00000527934.1:c.618C>A	ENSP00000435405.1:p.Tyr206Ter
ENST00000532694.5:c.1311C>A	ENSP00000432131.1:p.Tyr437Ter
ENST00000534286.5:c.1503C>A	ENSP00000436447.1:p.Tyr501Ter
NM_003105.5:c.4773C>A	NP_003096.1:p.Tyr1591Ter
XM_011542963.1:c.4659C>A	XP_011541265.1:p.Tyr1553Ter
XM_011542964.1:c.4773C>A	XP_011541266.1:p.Tyr1591Ter
XM_011542965.1:c.3234C>A	XP_011541267.1:p.Tyr1078Ter
XM_011542966.1:c.2133C>A	XP_011541268.1:p.Tyr711Ter
XM_011542967.1:c.1605C>A	XP_011541269.1:p.Tyr535Ter
XM_011542963.3:c.4659C>A	XP_011541265.1:p.Tyr1553Ter
XM_011542965.3:c.3234C>A	XP_011541267.1:p.Tyr1078Ter
XM_011542967.3:c.1605C>A	XP_011541269.1:p.Tyr535Ter
XM_017018169.2:c.4461C>A	XP_016873658.1:p.Tyr1487Ter
XM_017018170.2:c.4248C>A	XP_016873659.1:p.Tyr1416Ter
XM_017018171.1:c.4773C>A	XP_016873660.1:p.Tyr1591Ter
XM_017018172.2:c.2133C>A	XP_016873661.1:p.Tyr711Ter
NM_003105.6:c.4773C>A MANE Select	NP_003096.2:p.Tyr1591Ter